Results 131 to 140 of about 4,207 (192)

Canine GM1-Gangliosidosis [PDF]

, 2020
openaire   +1 more source

GM1 gangliosidosis type II: Results of a 10-year prospective study. [PDF]

Genet Med
D'Souza P, Farmer C, Johnston JM, Han ST, Adams D, Hartman AL, Zein W, Huryn LA, Solomon B, King K, Jordan CP, Myles J, Nicoli ER, Rothermel CE, Mojica Algarin Y, Huang R, Quimby R, Zainab M, Bowden S, Crowell A, Buckley A, Brewer C, Regier DS, Brooks BP, Acosta MT, Baker EH, Vézina G, Thurm A, Tifft CJ.   +28 more
europepmc   +1 more source

Real-time MR tracking of AAV gene therapy with βgal-responsive MR probe in a murine model of GM1-gangliosidosis. [PDF]

Mol Ther Methods Clin Dev, 2021
Taghian T, Batista AR, Kamper S, Caldwell M, Lilley L, Li H, Rodriguez P, Mesa K, Zheng S, King RM, Gounis MJ, Todeasa S, Maguire A, Martin DR, Sena-Esteves M, Meade TJ, Gray-Edwards HL.   +16 more
europepmc   +1 more source

Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model. [PDF]

Int J Mol Sci
Liu S, Xie T, Huang Y.
europepmc   +1 more source

Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis. [PDF]

Front Genet
Zagaynova VA, Nasykhova YA, Tonyan ZN, Danilova MM, Dvoynova NM, Lazareva TE, Ivashchenko TE, Shabanova ES, Krikheli IO, Lesik EA, Bespalova ON, Kogan IY, Glotov AS.   +12 more
europepmc   +1 more source

Corrigendum to "Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients" [Molecular Genetics and Metabolism 2025 Mar;144(3):109025]. [PDF]

Mol Genet Metab
Kolstad J, Zoppo C, Johnston JM, D'Souza P, Kühn AL, Vardar Z, Peker A, Hader A, Celik H, Lewis CJ, Lindsay C, Rentiya ZS, Lebel C, Vedantham S, Vachha B, Gray-Edwards HL, Acosta MT, Tifft CJ, Shazeeb MS.   +18 more
europepmc   +1 more source

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE). [PDF]

Orphanet J Rare Dis
Héron B, Batzios S, Mengel E, Giugliani R, Patterson M, Gautschi M, Cornelisse P, Trokan L, Schwierin B, Rohrbach M.   +9 more
europepmc   +1 more source

Novel insights into pathomechanisms of retinal neuronal degeneration and reactive gliosis in a murine model of G_M1-gangliosidosis. [PDF]

Sci Rep
Jubran L, Wannemacher R, Ulianytska A, Gerhauser I, Baumgärtner W, Leitzen E.   +5 more
europepmc   +1 more source

Evaluation and treatment of severe hyperacusis [PDF]

, 2000
Duddy, Diane, Goebel, Joel, Peterin, Judy, Sinks, Belinda, Valente, Michael   +4 more
core   +1 more source

Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis. [PDF]

Mol Ther Methods Clin Dev
Quadrini KJ, Vrentas C, Duke C, Wilson C, Hinderer CJ, Weinstein DA, Al-Zaidy SA, Browne SE, Wilson JM, Ni YG.   +9 more
europepmc   +1 more source